Phenotype-Genotype Correlations in Three Different Cases of Adult-Onset Genetic Focal Segmental Glomerulosclerosis.

This study highlights the importance of a combined diagnostic approach in the diagnosis of rare diseases, such as adult-onset genetic FSGS. We present three adult patient cases evaluated with kidney biopsy for proteinuria, chronic kidney disease, and hypertension, which were suggestive of adult-onset genetic FSGS. Renal biopsy samples and formalin-fixed, paraffin-embedded fetal kidneys were evaluated using standard light microscopical stainings, direct immunofluorescence on cryostat sections, and electron microscopy. Clinical exome sequencing was performed for each case, and 45 FSGS-related genes were analyzed. Identifying mutations in the PAX2, ACTN4, and COL4A5 genes have prompted a re-evaluation of the previous histopathological examinations. The PAX2 mutation led to a thinner nephrogenic zone and decreased number of glomeruli, resulting in oligohydramnios during fetal development and oligomeganephronia and adaptive focal-segmental glomerulosclerosis in adulthood. The ACTN4 mutation caused distinct electron-dense aggregates in podocyte cell bodies, while the COL4A5 mutation led to segmental sclerosis of glomeruli with marked interstitial fibrosis and tubular atrophy. The identification of specific mutations and their histopathological consequences can lead to a better understanding of the disease and its progression, as well as potential treatment options.

"Gap in the shield" ­ imaging of the thyroid gland from the multidisciplinary perspective / "Rés a pajzson" - a pajzsmirigy modern képalkotó vizsgálata multidiszciplináris szemszögbol.

Összefoglaló. A pajzsmirigy az elso szervek közé tartozik, melyek megjelenítésében, betegségeinek felfedezésében az ultrahang-diagnosztikának fontos szerepe van. A pajzsmirigybetegségek a lakosság jelentos részét érintik, és a technika fejlodésével egyre több pajzsmirigyeltérés, göb kerül felfedezésre. A pajzsmirigy rosszindulatú folyamatainak nincs egy bizonyos specifikus jele, viszont az ultrahangkép alapján meghatározhatók a malignitásra gyanús eltérések. Erre az elmúlt években több összefoglaló rendszer is született. Jelen összefoglaló tanulmányunknak az a célja, hogy bemutassuk a pajzsmirigy ultrahangdiagnosztikájának fejlodését; összehasonlítsuk az egyes leletezési rendszereket, úgymint TIRADS, EU-TIRADS, K-TIRADS, melyek célja a feltehetoleg rosszindulatú göbök kiszurése, azonosítása a mindennapi rutinmunka során; vizsgáljuk a különbözo rendszerek kapcsolatát a patológia által használt Bethesda-pontrendszerrel. Az ultrahangvizsgálat megfelelo értékelése, a pontrendszerek ismerete segíthet a pajzsmirigygöb differenciáldiagnózisában, a követési frekvencia meghatározásában, csökkentheti az aspirációs citológiák számát, ezzel támogatva a klinikai döntéshozatalt. Orv Hetil. 2021; 162(14): 530-541. Summary. The thyroid gland was one of the first organs, the ultrasound (US) examination of which has played an important role. The thyroid diseases affect a large part of the population, and with the development of imaging technology, more and more thyroid abnormalities, nodules and malignant lesions are being discovered. There are no specific signs of thyroid cancer, but the suspicious signs could be determined by US. In recent years, several systems have been developed. The aim of our review is to demonstrate the development of US diagnostics of the thyroid gland; to compare the different reporting systems, such as TIRADS, EU-TIRADS, K-TIRADS, which should help to identify the questionable lesions in the daily routine work. We examine the relationship between the different US systems and the Bethesda point score used by pathologists. The literature review shows that the US examination supports the clinical decisions, helps to select, who should have a fine-needle biopsy, and allows to determine the frequency of follow-up. The number of unnecessary fine-needle biopsies could be reduced, too. Our paper is part of a bigger research, the ethical license number is 23/2020, University of Szeged. Orv Hetil. 2021; 162(14): 530-541.

[Recommendation for the pathological examination of the placenta: practical aspects and indications. Methodological recommendation]. / A placenta vizsgálatának ajánlott módszertana és a vizsgálat javallatai. Módszertani javaslat.

Introduction: According to the Hungarian law, placental examination is not mandatory, although it is known from the international practice that it can give valuable information in cases of stillbirth or in conditions, where the neonate has difficulty in the postnatal adaptation. Aim: It can be useful in the early detection of diseases, which otherwise would have gone undetected until late in life. This article is unique in Hungary, as no similar guideline exists in Hungarian language. Method: The recommendation of the Royal College of Pathologists (United Kingdom) determines those conditions where essential information can be obtained from the placental examination in not normal pregnancies. It serves as a useful guide in the medical practice. The journal titled "Placenta", first published in 1980 with impact factor above two, just underlines this statement. Results: In this article, the authors present the recent guideline of the RCPath and finish with the presentation of established clinicopathological association that might help clinicians to get the most valuable information from placental examination. Conclusion: The present article aims to summarise updated recommendations and present clinicopathological correlations. Orv Hetil. 2019; 160(48): 1894-1903.

Gynecological and obstetrical aspects of Enterobius vermicularis infection.

Enterobiasis is an easily recognizable and treatable disease with higher incidence among children. Based on these facts, its clinical importance is usually underestimated. This infection also occurs during adulthood and without treatment, it can cause severe complications in some rare cases. Unnoticed subclinical infection in women can lead to infertility and even to life-threatening conditions. It is also emphasized in this paper that the treatment of identified enterobiasis during pregnancy needs caution. After reviewing the current scientific literature, two gynecological cases are presented here.

Evaluation of placental vascularization by three-dimensional ultrasound examination in second and third trimester of pregnancies complicated by chronic hypertension, gestational hypertension or pre-eclampsia.

OBJECTIVES: The purpose of this study was to assess three-dimensional placental power Doppler indices in second and third trimester of pregnancies complicated by chronic-, gestational hypertension or pre-eclampsia. METHODS: We analyzed 226 pregnancies prospectively measuring three-dimensional placental power Doppler indices (vascularization index, flow index, vascularization flow index) in cases of normal blood pressure (N=109), chronic hypertension (N=43), gestational hypertension (N=57) and pre-eclampsia (N=17). We evaluated the correlation among vascularization indices, flow characteristics of uterine arteries and perinatal outcome. We assessed the influence of maternal factors (pregestational body mass index, previous pregnancies/deliveries, maternal age) on vascularization indices, and analyzed histological findings of placenta from pregnancy hypertension groups. RESULTS: Vascularization index was significantly higher (p=0.010) in pregnancies with chronic- and lower (p=0.152) in pregnancies with gestational hypertension and preeclampsia compared to the normal group. Flow index was significantly lower in all three pathological groups compared to normal group. Placental volume was significantly smaller (p<0.001) in all three pathological groups than in normal pregnancies at the time of delivery, and there was no significant difference between the three affected groups. The rate of adverse pregnancy outcomes showed no significant difference between the normal and chronic hypertension groups. We observed significantly lower 1', 5' and 10' APGAR scores (p<0.,001), and birth weight in preeclampsia compared to chronic-, gestational hypertension, and normal groups. Maternal factors had no influence on the development of the power Doppler indices. CONCLUSION: Vascularization indices seem good markers for the prediction of risks and adverse outcomes in case of pregnancy hypertension.

[Low rate of oropharyngeal human papillomavirus infection among women with cervical lesion. Preliminary results from the South-Eastern Hungarian population]. / Oropharyngealis humán papillomavírus ritka elofordulása cervicalis laesióval rendelkezo nokben. Elozetes eredmények dél-magyarországi vizsgálat alapján.

INTRODUCTION: Although the natural history of cervical and oral human papillomavirus infection has been intensively investigated in the past years, the ability of this virus to infect oral and genital mucosae in the same individual and its potential to co-infect both cervical and oral mucosa are still unclear. AIM: The aim of the authors was to assess the presence of oropharyngeal human papillomavirus infection in women with cervical lesions in the South-Eastern Hungarian population. METHOD: The total of 103 women have been included in the study between March 1, 2013 and January 1, 2015. Brushing was used to collect cells from the oropharyngeal mucosa. Human papillomavirus DNA was detected using polymerase chain reaction, and Amplicor line blot test was used for genotyping. RESULTS: Oropharyngeal human papillomavirus infection was detected in 2 cases (3%). The detected genotypes were 31, 40/61 and 73 in the oropharyngeal region. CONCLUSIONS: The results indicate that in women with cervical lesions oropharyngeal human papillomavirus infection rarely occurs.

[Pathophysiological changes of umbilical vessels in intrauterine growth restriction]. / A köldökzsinór érrendellenességei az intrauterin fejlodési visszamaradásban.

INTRODUCTION: The prevalence of intrauterine growth restriction is 4-5000/100,000 births, and they give the majority of perinatal morbidity. AIM: The aim of the authors was to compare the pathomorphologic data and vasoreactivity of umbilical vessels and placenta of small for date newborns to that of the normal pregnancies. METHOD: Samples of the umbilical cord and placenta were divided into case and control groups. Two 10 cm long segments were cut of the umbilical cord at placental insertion. Tissue bath experiment was performed on umbilical vessels and pathomorphologic data were collected according to the Royal College of Pathologists' protocol. RESULTS: After the development of basal tone, oxytocin and desmopressin did not enhance the vascular contraction, but the pathomorphological and ultrasonographic data were significantly different in the two groups. CONCLUSIONS: The results indicate that umbilical vessels might not have oxytocin or vasopressin receptors. The pathomorphologic and flowmetric differences could be the causes of small birth weight.

Magnetic resonance vs. sonographic imaging: diagnostics of a large congenital pulmonary airway malformation.

Sonographic scan revealed a homogenously hyperechogenic lesion in the right fetal lung with microcystic pattern by a primigravid women at 22nd weeks of gestation. A large congenital pulmonary airway malformation (CPAM) was suspected with a lesion-to-lung ratio over 90%. The microcystic image of this thoracic anomaly was moderately visible on magnetic resonance imaging (MRI) at that early stage of the pregnancy. Fetopsy confirmed the diagnosis as a pure microcystic CPAM following termination of pregnancy. A controlled prospective study could be performed to compare ultrasound as a diagnostic modality to the MRI, focusing on volumetry, signal characteristics, and follow-up/regression of fetal pulmonary malformations.

Cystic Dilation of the Aqueductus Sylvii in Case of Trisomy 17p11.2-pter with the Deletion of the Terminal Portion of the Chromosome 6.

Since the 1970s, about 30 cases of partial or complete trisomy 17p have been presented in the literature. Partial trisomies of the short arm of chromosome 17 are somewhat more common, but complete trisomy is quite rare. Most of these cases were described in infants and newborns; and to our knowledge only 3 cases of trisomy 17p have been detected intrauterine. Phenotypic features of trisomy 17p in fetuses are intrauterine growth retardation, ventriculomegaly, cleft lip and cleft palate, micrognathia, horseshoe kidneys, single umbilical artery, and congenital heart defects. The sonographic and foetopathologic findings of a pregnancy trisomy 17p11.2-pter with the deletion of the terminal portion of the chromosome 6 due to paternal balanced translocation are described in this case report.

Unusual clinical history of a male infant with Edwards syndrome.

Edwards syndrome (trisomy of chromosome 18) is generally characterized by the disorders of central nervous system, as well as the musculoskeletal and genitourinary systems. In majority of the cases with trisomy 18 the following malformations can be found: ventricular septal defect, horseshoe kidneys, oesophageal atresia, omphalocele, facial clefts, diaphragmatic hernias and genital hypoplasia. We report a male patient with Edwards syndrome. The boy had a partial agenesis of corpus callosum, oesophageal atresia with tracheo-oesophageal fistula, renal agenesis, ventricular septal defect, Dandy-Walker cyst and low-set malformed ears. The first three features are unique based on previous literature reports on trisomy 18. This report allows a further delineation of the trisomy 18 syndrome.

[Primary lung cancer causing pulmonary artery microembolization and pulmonary hypertension]. / Arteria pulmonalis mikroembolizációt, pulmonalis hipertóniát okozó primer tüdorák.

The authors present a rare cause of pulmonary hypertension, which occurred in a 57-year-old woman. Postmortem examination discovered an adenocarcinoma with bronchioloalveolar growth pattern as a cause of severe dyspnoea, extreme pulmonary hypertension, and chronic cor pulmonale. The tumour involved all lobes of the lung. In the hilar lymph node metastasis was detectable. Histology showed tumour cell emboli in branches of the pulmonary arteries, intimal fibrosis, which was associated with fibrin precipitation and involvement of lymphatic vessels showing lymphangiosis carcinomatosa. The intrapulmonary dissemination of the adenocarcinoma could be caused by the isolated haematogenous dissemination via the thoracic duct. The authors discuss the possible pathomechanism of pulmonary hypertension and the way of tumour cell dissemination in the lung. They highlight the histological changes, which accompany the syndrome of pulmonary tumour thrombotic microangiopathy. In this case, which can be regarded rarely published in the literature, they emphasise the differential diagnostic questions.

[Hydrops fetalis--a retrospective study]. / Hydrops foetus universalis, visszatekinto tanulmány.

In a retrospective study, the authors examined the occurrence of hydrops in foetal and neonatal cases in a five-year period. During this time, the clinical and pathologic diagnosis of hydrops was established in 28 cases. In three cases, the hydrops was caused by Rh incompatibility, and in 25 cases non-immune hydrops was discovered by clinical and pathologic examination. The cause of hydrops was recognised in 25 cases and no underlying disease was discernible in three. In 12 cases, the pregnancy was spontaneously terminated. Artificial abortion was performed in four cases. In this series, four hydropic newborns died on the first week of their life. The average age in artificial abortion was 16-20 gestational week and 24 in spontaneous abortion or stillbirth. Pathologic examination revealed increased weight, oedema, ascites, and hydrothorax in all cases. In half of the cases, there was also hydropericardium. Hepatosplenomegaly, cardiomegaly, pulmonary hypoplasia, increased extramedullary hemopoiesis, and placenta oedema were seen in all the cases. Causes of the non-immune hydrops were cardiac malformation in 4 cases, chromosome anomaly in 3, cystic hygroma in 2, skeletal anomaly in 1, foeto-foetal transfusion in 3, infection in 7 and sacrococcygeal teratoma in 1 case. In two cases, the underlying disease was reported to be of maternal origin. Comparing the clinical and pathologic findings there were only three cases with absolute agreement. The underlying disease revealed by pathologic examination was regarded to be significant from respect of inheritance, therapeutic approach, and further management in 10 cases. The authors emphasise the importance of pathologic examinations in foetal hydrops and point out the significance of clinico-pathological collaboration in the decision about further management of hydropic foetuses.